Journal of Pediatric Neurosciences最新文献

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Clival atypical teratoid/rhabdoid tumor: A diagnostic dilemma 斜坡非典型畸胎瘤/横纹肌样瘤:诊断困境
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2022-01-01 DOI: 10.4103/jpn.jpn_145_21
M. Jana, P. Sinha, R. Seth, Kavneet Kaur
{"title":"Clival atypical teratoid/rhabdoid tumor: A diagnostic dilemma","authors":"M. Jana, P. Sinha, R. Seth, Kavneet Kaur","doi":"10.4103/jpn.jpn_145_21","DOIUrl":"https://doi.org/10.4103/jpn.jpn_145_21","url":null,"abstract":"","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70817468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
False negativity in towel test for elbow flexion assessment in brachial plexus birth palsy. Can we attribute to handedness? 臂丛分娩性麻痹肘关节屈曲评估毛巾试验假阴性。我们能把这归因于惯用手吗?
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2022-01-01 DOI: 10.4103/jpn.jpn_162_20
T. Jerome
{"title":"False negativity in towel test for elbow flexion assessment in brachial plexus birth palsy. Can we attribute to handedness?","authors":"T. Jerome","doi":"10.4103/jpn.jpn_162_20","DOIUrl":"https://doi.org/10.4103/jpn.jpn_162_20","url":null,"abstract":"Objectives: The towel test is considered as a reliable clinical examination finding to test the elbow flexion in Brachial plexus birth palsy. A mature central nervous system makes this test positive at 6 months’ time and those who failed the test require microsurgical exploration and nerve repair/transfers for upper limb functions. Not all infants pass in this test. Majority of the children develop a clear hand preference at 6 months of age. We hypothesize the validity of the towel test in brachial plexus birth palsy children between 6 and 9 months of age and the possibility of mother and infant handedness in the false-negative tests. Materials and Methods: A retrospective analysis conducted between 2015 and 2019 about the utility of “towel test” involving 12 boys and 11 girls was analyzed and interpreted. The side involved in these infants and the mother’s handedness was also noted. Based on the age, side, gender, and mother-handedness, the results of towel tests were statistically interpreted. Results: The mean age of the infants involved was 6.6 months (range 6–9 months). Twenty children (87%) had positive tests. Three (13%) infants (male = 2; female = 1) had false-negative test. There was no action on the normal side to remove the towel but weak movements in the affected upper limb persisted to try and remove the towel. The left-hand mother’s infant had false-negative towel test, which was found statistically significant (P < 0.01). Conclusion: Clinicians should know that false negativity may coexist while using the towel test and handedness could be a possibility in them. In such conditions, additional tests can be used to assess the ongoing motor recovery in brachial plexus birth palsy children between 6 and 9 months of age.","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70818008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
RHOBTB2 gene-related developmental and epileptic encephalopathy RHOBTB2基因相关的发育性和癫痫性脑病
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2022-01-01 DOI: 10.4103/jpn.jpn_66_21
I. Sharawat, P. Panda, BasantK Pandey, AmitK Pradhan, Rabab Banu
{"title":"RHOBTB2 gene-related developmental and epileptic encephalopathy","authors":"I. Sharawat, P. Panda, BasantK Pandey, AmitK Pradhan, Rabab Banu","doi":"10.4103/jpn.jpn_66_21","DOIUrl":"https://doi.org/10.4103/jpn.jpn_66_21","url":null,"abstract":"","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70820138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Development Delay in a Child with Microcephaly and Birth Asphyxia: Explore Diagnosis beyond Hypotonic Cerebral Palsy. 小头畸形和出生窒息儿童的发育迟缓:探索低渗性脑瘫以外的诊断。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_126_20
Jasbir Singh, Poonam Dalal, Kamal Nain Rattan
{"title":"Development Delay in a Child with Microcephaly and Birth Asphyxia: Explore Diagnosis beyond Hypotonic Cerebral Palsy.","authors":"Jasbir Singh,&nbsp;Poonam Dalal,&nbsp;Kamal Nain Rattan","doi":"10.4103/jpn.JPN_126_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_126_20","url":null,"abstract":"<p><p>We describe a case of a 2-year-old female child who presented as emergency with acute gastroenteritis and severe dehydration. In this patient, there was a history of severe birth asphyxia, and the developmental milestones were delayed. The child was managed as hypotonic cerebral palsy elsewhere with antiepileptic drug and nutritional supplements. However, persistent abnormal pattern of breathing after adequate hydration and noncontributory metabolic profile raised the suspicion of alternate etiology. Later, the diagnosis of Joubert syndrome was established on contrast-enhanced magnetic resonance imaging of brain with findings of \"molar tooth sign\" appearance along with vermian hypoplasia. We present this case to alert the clinicians to explore all the differential diagnoses carefully whenever a child presents with the developmental delay associated with multisystem involvement.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757521/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10392091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence of Sleep Disorders in Children with Cerebral Palsy; A Questionnaire-based Observational Study. 脑瘫儿童睡眠障碍患病率调查一项基于问卷的观察性研究。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_205_20
Shilpa Kulkarni, Tanmay Sanjay Jadhav
{"title":"Prevalence of Sleep Disorders in Children with Cerebral Palsy; A Questionnaire-based Observational Study.","authors":"Shilpa Kulkarni,&nbsp;Tanmay Sanjay Jadhav","doi":"10.4103/jpn.JPN_205_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_205_20","url":null,"abstract":"Background: Cerebral palsy (CP), the most common developmental disorder, has many comorbidities (epilepsy and behavioral issues). Sleep disturbances are common complaints of parents and are usually neglected in pediatric populations in comparison to other well-documented co-morbidities of CP but may have a significant effect on the quality of life of children and their parents. Objective: To study the prevalence and pattern of sleep disorders (SD) in children with CP. Study Design: Questionnaire-based observational study. Setting: Pediatric tertiary care center. The study was done over 6 months. Participants: In total, 200 children with CP between the ages of 1 year to 14 years were included in the study by convenience sampling. Co-morbid health problems involving cardiorespiratory system, other illness (e.g. epilepsy and gastroesophageal reflux disease), or children on anticonvulsant medications altering sleep patterns were excluded. Intervention: The Sleep Disturbance Scale for Children (SDSC) was administered to assess the presence of pathological sleep and type of SD ranging between Disorders of Initiation and Maintenance of Sleep (DIMS), Sleep Breathing disorders (SBD), Disorders of Arousal (DA), Sleep-Wake Transition Disorders (SWTD), Disorders of Excessive Somnolence (DES), and Sleep Hyperhydrosis (SHY). Main Outcome Measures: Sixty-two percentage of children (124) had a pathological total sleep score (score >39). Results: DIMS are the most common, occurring in 78.2% of subjects with a pathological sleep score (score >39). Quadriplegics [n = 96, mean score = 49.86(16.38)] and GMFCS V [n = 19, mean score = 58.00(17.10)] are most severely affected. Conclusion and Discussion: Children with CP have under-reported SD and DIMS is the most common type of SD. There is a linear correlation between the extent of topographical and motor afflictions and SD.","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10400466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thyroid Hormone Transporter Defect: Allan Herndon Dudley Syndrome, Masquerading as Dyskinetic Cerebral Palsy. 甲状腺激素转运体缺陷:艾伦·赫恩登·达德利综合征,伪装成运动障碍脑瘫。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_135_20
Vykuntaraju Kammasandra Gowda, Priya Gupta, Sanjay K Shivappa, Naveen Benakappa
{"title":"Thyroid Hormone Transporter Defect: Allan Herndon Dudley Syndrome, Masquerading as Dyskinetic Cerebral Palsy.","authors":"Vykuntaraju Kammasandra Gowda,&nbsp;Priya Gupta,&nbsp;Sanjay K Shivappa,&nbsp;Naveen Benakappa","doi":"10.4103/jpn.JPN_135_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_135_20","url":null,"abstract":"<p><p>Allan Herndon Dudley syndrome (AHDS) is a rare X-linked recessive disorder due to mutation in the <i>SLC16A2</i> gene, which encodes a thyroid hormone (TH) transporter that facilitates the movement of TH across the neurons. Mutation in this gene leads to a lack of T3 and T4 entry in the brain, which causes central hypothyroidism and dysthyroidism in the peripheral tissue. We report a child, a 21-month-old boy, who presented with developmental delay and stiffness. The child had facial dysmorphism with dystonia. MRI of the brain was normal. Thyroid profile showed low free T4, and normal TSH but high free T3. Hence, AHDS was suspected and was confirmed by targeted next-generation testing and Sanger sequencing.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10749740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Carbamazepine-Responsive Chorea in a Toddler with Semilobar Holoprosencephaly: Case Report. 卡马西平反应性舞蹈病患儿半叶前脑全裂:1例报告。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_229_20
Leonardo Ajuz do Prado Oliveira, Izabela Mara Martins Silveira, Thiago Ribeiro E Silva, Daniel Almeida do Valle
{"title":"Carbamazepine-Responsive Chorea in a Toddler with Semilobar Holoprosencephaly: Case Report.","authors":"Leonardo Ajuz do Prado Oliveira,&nbsp;Izabela Mara Martins Silveira,&nbsp;Thiago Ribeiro E Silva,&nbsp;Daniel Almeida do Valle","doi":"10.4103/jpn.JPN_229_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_229_20","url":null,"abstract":"<p><strong>Introduction: </strong>Holoprosencephaly (HPE) is a central nervous system malformation defined by incomplete separation of the prosencephalon in two hemispheres and determines a broad spectrum of clinical presentations based on extension of non-separation.</p><p><strong>Case presentation: </strong>A 1 year and 8 months' old girl with semilobar HPE and 18p deletion syndrome was admitted to our hospital due to viral bronchiolitis. During hospitalization, she started generalized choreic movements, with face dyskinesia and without any identified aggravating factors. Haloperidol, clonazepam, and valproic acid did not achieve an attenuation of the movement disorder. Significant symptom relief was obtained with the use of trihexyphenidyl, with reduced amplitude and frequency of movements, but hyperthermia compromised its use. Control of chorea with no important side effects was only achieved after the introduction of carbamazepine.</p><p><strong>Discussion: </strong>Despite significant morbidity, there are few cases described in the literature of chorea and movement disorders in HPE and no effective treatment strategies described. Carbamazepine is an antiepileptic drug that stabilizes voltage-gated sodium channels and is the most effective treatment for paroxysmal kinesigenic dyskinesia. Although it has been used successfully in the treatment of different movement disorders, few therapeutic trials have been reported. The mechanism by which carbamazepine alleviates chorea is still unknown but may be justified through the blocking of post-synaptic dopamine receptors and stimulation of cholinergic pathways.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757506/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10749742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Leukoencephalopathy with Calcifications and Cysts in a Child with Progressive Hemiparesis-A Case Report. 儿童进行性偏瘫伴钙化和囊肿的脑白质病1例报告。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_113_20
Minhaj Shaikh, Sarbesh Tiwari, Taruna Yadav, Pawan K Garg, Pushpinder S Khera
{"title":"Leukoencephalopathy with Calcifications and Cysts in a Child with Progressive Hemiparesis-A Case Report.","authors":"Minhaj Shaikh,&nbsp;Sarbesh Tiwari,&nbsp;Taruna Yadav,&nbsp;Pawan K Garg,&nbsp;Pushpinder S Khera","doi":"10.4103/jpn.JPN_113_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_113_20","url":null,"abstract":"<p><p>With the advent of modern neuroimaging, the imaging features of various leukoencephalopathies have been unraveled in the past two decades. Leukoencephalopathy with calcifications and cysts (LCC) is one such rare autosomal recessive disorder with marked clinical heterogeneity and a striking but characteristic imaging appearance-diffuse white matter changes, intraparenchymal cysts, and calcifications. The calcifications in LCC are characteristically nodular, dense, bulky, and predominantly located in gray nuclei of the central brain (basal ganglia, thalami) and cerebellum (dentate nuclei). We describe a case of a 9-year-old boy with progressive left hemiparesis and seizures, which on imaging showed characteristic features of LCC. We further review the neuroimaging features of LCC and its differential diagnoses.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10749745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intrasphenoidal Rathke Cleft Cyst: A Rare Case Report. 裂隙囊肿1例报告。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_262_20
Mahadevan S Gowtham, Devaraj Sunilkumar, Andi S Ramesh, Bheemanathi H Srinivas, Dinesh Verma, Krishnan Nagarajan
{"title":"Intrasphenoidal Rathke Cleft Cyst: A Rare Case Report.","authors":"Mahadevan S Gowtham,&nbsp;Devaraj Sunilkumar,&nbsp;Andi S Ramesh,&nbsp;Bheemanathi H Srinivas,&nbsp;Dinesh Verma,&nbsp;Krishnan Nagarajan","doi":"10.4103/jpn.JPN_262_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_262_20","url":null,"abstract":"<p><p>Rathke cleft cysts are benign lesions of the sellar and suprasellar region. Extrasellar intrasphenoidal Rathke cleft cysts are rare with only one case reported in pediatric age group. The presenting complaints described include headache and diplopia. We report a case of intrasphenoidal Rathke cleft cyst in a 15-year-old girl who presented with headache and visual disturbances. Neuroimaging showed an expansile cystic lesion involving the sphenoid sinus with mass effect over the pituitary and optic chiasma. Endoscopic decompression of the cystic lesion was done and histopathology of the cyst wall revealed it to be Rathke cleft cyst. Follow-up MRI showed total resection of the cystic lesion with residual partial left optic nerve atrophy.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757520/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10400464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Herpes Simplex Virus-2 Encephalitis Complicated with Multiple Cranial Neuritis and Dysautonomia. 单纯疱疹病毒-2型脑炎并发多发性脑神经炎和自主神经异常。
IF 0.5
Journal of Pediatric Neurosciences Pub Date : 2021-10-01 DOI: 10.4103/jpn.JPN_239_20
Jithangi Wanigasinghe, Ashan Jayawickrama, Nilupulee Sumanasekera
{"title":"Herpes Simplex Virus-2 Encephalitis Complicated with Multiple Cranial Neuritis and Dysautonomia.","authors":"Jithangi Wanigasinghe,&nbsp;Ashan Jayawickrama,&nbsp;Nilupulee Sumanasekera","doi":"10.4103/jpn.JPN_239_20","DOIUrl":"https://doi.org/10.4103/jpn.JPN_239_20","url":null,"abstract":"<p><strong>Introduction: </strong>Herpes simplex encephalitis (HSE) is mainly caused by herpes simplex virus-1 infection (HSV-1). Herpes simplex virus-2 (HSV-2) infection is rare except in neonates or the immune-compromised. Cranial neuritis is rarely reported in association with HSE. This case study in an eleven-month-old followed by a literature review on cranial neuritis in HSE in children is presented due to the rarity of both situations.</p><p><strong>Case report: </strong>An eleven-month old otherwise healthy infant presented with encephalitis due to HSV-2 infection which was complicated with dysautonomia manifesting as blood pressure fluctuations and tachycardia, and cranial neuritis manifesting as unilateral ptosis and palatal palsy. The clinical presentation of brain stem encephalitis was confirmed by the Magnetic Resonance Imaging findings of hyperintense foci and contrast enhancement in the medulla oblongata. Following treatment with acyclovir, he made a complete recovery. He did not have any clinical or laboratorial evidence suggestive of immune deficiency.</p><p><strong>Conclusion: </strong>HSV-2 infection can occur beyond the neonatal age group even in the absence of immune compromise. The brainstem encephalitis manifesting as cranial neuritis and autonomic dysfunction made a complete recovery.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10400472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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